gangliosidosis
http://purl.obolibrary.org/obo/MONDO_0017719
A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. [ MESH:D005733 ]
Term info
- SCTID:50967008 (MONDO:equivalentTo)
- DOID:2368 (MONDO:equivalentTo)
- UMLS:C0017083 (Orphanet:309144/e)
- Orphanet:309144 (MONDO:equivalentTo)
- GARD:0012510 (MONDO:equivalentTo)
disease_grouping, ordo_group_of_disorders
A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.
http://purl.obolibrary.org/obo/DOID_2368, http://purl.obolibrary.org/obo/Orphanet_309144, http://identifiers.org/snomedct/50967008, http://linkedlifedata.com/resource/umls/id/C0017083
MONDO:0017719